Canonical Allele Identifier: CA1996390360
Gene: DYNC2H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103120985T= , CM000673.2:g.103120985T= GRCh38
NC_000011.9:g.102991714T= , CM000673.1:g.102991714T= GRCh37
NC_000011.8:g.102496924T= NCBI36
NG_016423.1:g.16555T=
NG_016423.2:g.16555T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.1309T= MANE Plus Clinical ENSP00000497174.1:p.Leu437=
ENST00000375735.7:c.1309T= MANE Select ENSP00000364887.2:p.Leu437=
ENST00000648198.1:c.1309T= ENSP00000497329.1:p.Leu437=
ENST00000649323.1:c.1309T= ENSP00000497581.1:p.Leu437=
ENST00000650373.1:c.1309T= ENSP00000497174.1:p.Leu437=
ENST00000334267.11:c.1309T= ENSP00000334021.7:p.Leu437=
ENST00000375735.6:c.1309T= ENSP00000364887.2:p.Leu437=
ENST00000398093.7:c.1309T= ENSP00000381167.3:p.Leu437=
NM_001080463.1:c.1309T= NP_001073932.1:p.Leu437=
NM_001377.2:c.1309T= NP_001368.2:p.Leu437=
XM_006718903.2:c.1309T= XP_006718966.1:p.Leu437=
XM_017018291.1:c.1309T= XP_016873780.1:p.Leu437=
XM_017018292.1:c.691T= XP_016873781.1:p.Leu231=
XM_017018293.1:c.1309T= XP_016873782.1:p.Leu437=
NM_001377.3:c.1309T= MANE Select NP_001368.2:p.Leu437=
NM_001080463.2:c.1309T= MANE Plus Clinical NP_001073932.1:p.Leu437=